The geneticist explained the importance of accurate diagnosis of hereditary diseases

Diagnosis of rare hereditary diseases is a complex path that experts call a "diagnostic odyssey." On October 20, Tatiana Markova, head of the scientific advisory department of the Medical and Genetic Research Center named after Academician N.P. Bochkov, geneticist, MD, told Izvestia about this at the Izvestia News Center during a joint press conference of the Medical and Genetic Research Center named after Academician N.P. Bochkova and the "Biotech Campus" on the topic: "Genome-wide research in medicine".

According to her, the symptoms of hereditary pathologies can affect various organs and disguise themselves as other diseases, as a result of which patients have been visiting different specialists for years without receiving an accurate diagnosis.

"And now specialization allows us to identify the so—called "red flags", very important symptoms of rare hereditary diseases, and put these seemingly disparate symptoms in a patient like puzzles into a complete picture of a hereditary disease," added Markova.

She stressed that over the past 10-15 years, a real revolution has taken place in the diagnosis of hereditary diseases due to the introduction of complete genomic sequencing. This powerful method allows you to determine the cause of the disease in cases where previously medicine was powerless. An accurate diagnosis provides an opportunity to end the diagnostic odyssey, giving the family clarity and the opportunity to focus on treatment.

The expert called the choice of the correct tactics of patient management, referral to the right specialists, selection of therapy and rehabilitation the most important aspects of accurate diagnosis. But prevention for future generations is of particular importance, according to Markova. Having established the cause of the hereditary disease, doctors can calculate the risk of re-birth of a child with severe pathology in the family and suggest methods of prenatal diagnosis, IVF with preimplantation genetic diagnosis, as well as examination of relatives to identify healthy carriers of the mutation.

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This amount will help save the lives of more than 1.2 million people, experts believe.

Ophthalmologist, ophthalmic surgeon at JSC "Medicine" (Academician Roitberg Clinic), Ph.D. Sino Goziev told Izvestia on September 14 that vision problems often develop due to excessive eye strain caused by the constant use of gadgets. As a result, the visual muscles stop functioning normally, which leads to eye fatigue and decreased image clarity. Their condition can also be affected by using the wrong glasses or contact lenses.

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